{"id":"W2091254383","doi":"10.1002/humu.20187","title":"Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis","year":2005,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"","keywords":"Haploinsufficiency; Homeobox; Missense mutation; Biology; Genetics; Short stature; Phenotype; Mutation; Gene; Idiopathic short stature; Transcription factor; Endocrinology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009903443,0.0003952343,0.0002041825,0.0004730138,0.000140169,0.000119533,0.00009464267,0.0003036669,0.0008520672],"category_scores_gemma":[0.0003282308,0.0001302776,0.0001426514,0.0001937105,0.0003461039,0.00009777459,0.0001569322,0.0001626188,0.0001538984],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001044627,"about_ca_system_score_gemma":0.00007812951,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003503457,"about_ca_topic_score_gemma":0.0005500081,"domain_scores_codex":[0.9998529,0.00003204712,0.00001802133,0.00003373481,0.00004527103,0.00001804877],"domain_scores_gemma":[0.9998462,0.0000368909,0.00005755453,0.000008634394,0.000008569742,0.00004202475],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003963414,0.00006953857,0.0500976,0.00005952698,0.00004871795,0.009032561,0.0003155036,0.0002783265,0.9342245,0.0001887759,0.00005428441,0.005234404],"study_design_scores_gemma":[0.0001401968,0.00115599,0.6250283,0.00002028144,0.0001119214,0.08262006,0.0004204795,0.003385418,0.285162,0.0004088993,0.001513783,0.0000327583],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996374,0.0000845533,0.00015012,0.000009295946,0.00000129003,0.000001270935,0.00001752467,0.000004188401,0.00009434365],"genre_scores_gemma":[0.9996904,0.00004086367,0.0001296942,0.000007520764,0.000001521219,0.00000134576,0.00003784783,0.000001655345,0.00008918086],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008520672,"threshold_uncertainty_score":0.002850473,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01002160192865499,"score_gpt":0.2602068655612738,"score_spread":0.2501852636326188,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}